Researchers presented a case report in the World Journal of Clinical Cases of a patient who had Alagille syndrome associated with total anomalous pulmonary venous connection (TAPVC) and severe xanthomas. 

The case report details a 20-day-old boy who was referred to the hospital for jaundice of an unknown cause since birth and TAPVC. He had neither a history of other illnesses nor a family history of genetic disease. However, his father had facial features characteristic of Alagille syndrome: a prominent forehead, deep-set eyes, a pointed chin, and a saddle-shaped nose with a bulbous tip.

Physical examination of the child revealed jaundiced skin and sclera, and he had the same facial features as his father. Upon chest auscultation, abnormal sounds and murmurs were audible. Upon abdominal examination, his physicians reported a palpable liver with a soft edge 4 cm below the right costal margin. 


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Biochemical laboratory findings revealed increased levels of serum gamma-glutamyl transpeptidase, total bilirubin, direct bilirubin, and total bile acids. Chest computed tomography angiography revealed that the patient had a butterfly vertebra at the seventh thoracic vertebra. In addition, he had 4 pulmonary veins that were joined together and drained into the vertical vein, which flowed into the dilated left innominate vein and then into the superior vena cava. 

Read more about Alagille syndrome etiology

The patient’s physicians suspected a diagnosis of Alagille syndrome. This was confirmed by genetic testing; the boy had a heterozygous variant in the JAG1 gene. After he was diagnosed with Alagille syndrome, he was started on ursodiol treatment, which was well tolerated. 

At 1.5 months of age, the patient underwent surgical correction for his cardiac murmur. At 2 years of age, he was seen at the clinic for severe xanthomas; laboratory findings revealed elevated levels of liver enzymes, cholesterol, and triglycerides. 

“These findings suggest that [the] JAG1 gene may be a pathogenic gene of TAPVC. Further research should be carried out to prove this hypothesis,” the authors wrote.

Reference

Zeng HS, Zhang ZH, Hu Y, et al. Alagille syndrome associated with total anomalous pulmonary venous connection and severe xanthomas: a case reportWorld J Clin Cases. 2022;10(25):8932-8938. doi:10.12998/wjcc.v10.i25.8932